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Results: 1 to 20 of 102

Similar articles for PubMed (Select 23455423)

1.

Mutations in prion-like domains in hnRNPA2B1 and hnRNPA1 cause multisystem proteinopathy and ALS.

Kim HJ, Kim NC, Wang YD, Scarborough EA, Moore J, Diaz Z, MacLea KS, Freibaum B, Li S, Molliex A, Kanagaraj AP, Carter R, Boylan KB, Wojtas AM, Rademakers R, Pinkus JL, Greenberg SA, Trojanowski JQ, Traynor BJ, Smith BN, Topp S, Gkazi AS, Miller J, Shaw CE, Kottlors M, Kirschner J, Pestronk A, Li YR, Ford AF, Gitler AD, Benatar M, King OD, Kimonis VE, Ross ED, Weihl CC, Shorter J, Taylor JP.

Nature. 2013 Mar 28;495(7442):467-73. doi: 10.1038/nature11922. Epub 2013 Mar 3.

2.

Motor neuron involvement in multisystem proteinopathy: implications for ALS.

Benatar M, Wuu J, Fernandez C, Weihl CC, Katzen H, Steele J, Oskarsson B, Taylor JP.

Neurology. 2013 May 14;80(20):1874-80. doi: 10.1212/WNL.0b013e3182929fc3. Epub 2013 May 1.

3.

No mutations in hnRNPA1 and hnRNPA2B1 in Dutch patients with amyotrophic lateral sclerosis, frontotemporal dementia, and inclusion body myopathy.

Seelen M, Visser AE, Overste DJ, Kim HJ, Palud A, Wong TH, van Swieten JC, Scheltens P, Voermans NC, Baas F, de Jong JM, van der Kooi AJ, de Visser M, Veldink JH, Taylor JP, Van Es MA, van den Berg LH.

Neurobiol Aging. 2014 Aug;35(8):1956.e9-1956.e11. doi: 10.1016/j.neurobiolaging.2014.01.152. Epub 2014 Feb 6.

PMID:
24612671
4.

hnRNPA2B1 and hnRNPA1 mutations are rare in patients with "multisystem proteinopathy" and frontotemporal lobar degeneration phenotypes.

Le Ber I, Van Bortel I, Nicolas G, Bouya-Ahmed K, Camuzat A, Wallon D, De Septenville A, Latouche M, Lattante S, Kabashi E, Jornea L, Hannequin D, Brice A; French research Network on FTLD/FTLD-ALS.

Neurobiol Aging. 2014 Apr;35(4):934.e5-6. doi: 10.1016/j.neurobiolaging.2013.09.016. Epub 2013 Oct 9.

PMID:
24119545
5.
6.

Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels.

Bartolome F, Wu HC, Burchell VS, Preza E, Wray S, Mahoney CJ, Fox NC, Calvo A, Canosa A, Moglia C, Mandrioli J, Chiò A, Orrell RW, Houlden H, Hardy J, Abramov AY, Plun-Favreau H.

Neuron. 2013 Apr 10;78(1):57-64. doi: 10.1016/j.neuron.2013.02.028. Epub 2013 Mar 14.

7.

Abnormal distribution of heterogeneous nuclear ribonucleoproteins in sporadic inclusion body myositis.

Pinkus JL, Amato AA, Taylor JP, Greenberg SA.

Neuromuscul Disord. 2014 Jul;24(7):611-6. doi: 10.1016/j.nmd.2014.04.012. Epub 2014 May 6.

PMID:
24857366
8.

Analysis of hnRNPA1, A2/B1, and A3 genes in patients with amyotrophic lateral sclerosis.

Calini D, Corrado L, Del Bo R, Gagliardi S, Pensato V, Verde F, Corti S, Mazzini L, Milani P, Castellotti B, Bertolin C, Sorarù G, Cereda C, Comi GP, D'Alfonso S, Gellera C, Ticozzi N, Landers JE, Ratti A, Silani V; SLAGEN Consortium.

Neurobiol Aging. 2013 Nov;34(11):2695.e11-2. doi: 10.1016/j.neurobiolaging.2013.05.025. Epub 2013 Jul 2.

PMID:
23827524
9.

The homozygote VCP(R¹⁵⁵H/R¹⁵⁵H) mouse model exhibits accelerated human VCP-associated disease pathology.

Nalbandian A, Llewellyn KJ, Kitazawa M, Yin HZ, Badadani M, Khanlou N, Edwards R, Nguyen C, Mukherjee J, Mozaffar T, Watts G, Weiss J, Kimonis VE.

PLoS One. 2012;7(9):e46308. doi: 10.1371/journal.pone.0046308. Epub 2012 Sep 28.

10.

Phenotypic variability in three families with valosin-containing protein mutation.

Spina S, Van Laar AD, Murrell JR, Hamilton RL, Kofler JK, Epperson F, Farlow MR, Lopez OL, Quinlan J, DeKosky ST, Ghetti B.

Eur J Neurol. 2013 Feb;20(2):251-8. doi: 10.1111/j.1468-1331.2012.03831.x. Epub 2012 Aug 20.

11.

The multiple faces of valosin-containing protein-associated diseases: inclusion body myopathy with Paget's disease of bone, frontotemporal dementia, and amyotrophic lateral sclerosis.

Nalbandian A, Donkervoort S, Dec E, Badadani M, Katheria V, Rana P, Nguyen C, Mukherjee J, Caiozzo V, Martin B, Watts GD, Vesa J, Smith C, Kimonis VE.

J Mol Neurosci. 2011 Nov;45(3):522-31. doi: 10.1007/s12031-011-9627-y. Epub 2011 Sep 3. Review.

PMID:
21892620
12.

The tip of the iceberg: RNA-binding proteins with prion-like domains in neurodegenerative disease.

King OD, Gitler AD, Shorter J.

Brain Res. 2012 Jun 26;1462:61-80. doi: 10.1016/j.brainres.2012.01.016. Epub 2012 Jan 21. Review.

13.

Novel valosin containing protein mutation in a Swiss family with hereditary inclusion body myopathy and dementia.

Peyer AK, Kinter J, Hench J, Frank S, Fuhr P, Thomann S, Fischmann A, Kneifel S, Camaño P, López de Munain A, Sinnreich M, Renaud S.

Neuromuscul Disord. 2013 Feb;23(2):149-54. doi: 10.1016/j.nmd.2012.09.009. Epub 2012 Nov 8.

PMID:
23140793
14.

Expression of Fused in sarcoma mutations in mice recapitulates the neuropathology of FUS proteinopathies and provides insight into disease pathogenesis.

Verbeeck C, Deng Q, Dejesus-Hernandez M, Taylor G, Ceballos-Diaz C, Kocerha J, Golde T, Das P, Rademakers R, Dickson DW, Kukar T.

Mol Neurodegener. 2012 Oct 10;7:53. doi: 10.1186/1750-1326-7-53.

15.

Different dynamic movements of wild-type and pathogenic VCPs and their cofactors to damaged mitochondria in a Parkin-mediated mitochondrial quality control system.

Kimura Y, Fukushi J, Hori S, Matsuda N, Okatsu K, Kakiyama Y, Kawawaki J, Kakizuka A, Tanaka K.

Genes Cells. 2013 Dec;18(12):1131-43. doi: 10.1111/gtc.12103. Epub 2013 Nov 12.

PMID:
24215292
16.

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone.

Custer SK, Neumann M, Lu H, Wright AC, Taylor JP.

Hum Mol Genet. 2010 May 1;19(9):1741-55. doi: 10.1093/hmg/ddq050. Epub 2010 Feb 10.

17.

A progressive translational mouse model of human valosin-containing protein disease: the VCP(R155H/+) mouse.

Nalbandian A, Llewellyn KJ, Badadani M, Yin HZ, Nguyen C, Katheria V, Watts G, Mukherjee J, Vesa J, Caiozzo V, Mozaffar T, Weiss JH, Kimonis VE.

Muscle Nerve. 2013 Feb;47(2):260-70. doi: 10.1002/mus.23522. Epub 2012 Nov 21.

18.

[Inclusion body myopathy with Paget's disease of bone and frontotemporal dementia].

Hayashi Y.

Rinsho Shinkeigaku. 2013;53(11):947-50. Review. Japanese.

PMID:
24291843
19.

Evolutionarily conserved heterogeneous nuclear ribonucleoprotein (hnRNP) A/B proteins functionally interact with human and Drosophila TAR DNA-binding protein 43 (TDP-43).

Romano M, Buratti E, Romano G, Klima R, Del Bel Belluz L, Stuani C, Baralle F, Feiguin F.

J Biol Chem. 2014 Mar 7;289(10):7121-30. doi: 10.1074/jbc.M114.548859. Epub 2014 Feb 3.

20.

Yeast prions and human prion-like proteins: sequence features and prediction methods.

Cascarina SM, Ross ED.

Cell Mol Life Sci. 2014 Jun;71(11):2047-63. doi: 10.1007/s00018-013-1543-6. Epub 2014 Jan 4. Review.

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